Evidence map›Paper›PMID 38565889›Full record

ArticleScientific reports2024

Genetic determinants of plasma protein levels in the Estonian population.

Anette Kalnapenkis, Maarja Jõeloo, Kaido Lepik, Viktorija Kukuškina, Mart Kals, Kaur Alasoo, Estonian Biobank Research Team, Reedik Mägi, Tõnu Esko, Urmo Võsa

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
5.5field-weighted citation impact, top 4% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed, 10 citations in OpenAlex.

  1. Proteogenomics in human populations.Nature reviews. Genetics · 2026
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4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 2 institutions in 2 countries.

Anette Kalnapenkis *Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia. anette.kalnapenkis@ut.ee.
Maarja Jõeloo *Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Kaido LepikEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Viktorija KukuškinaEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Mart KalsEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Kaur AlasooInstitute of Computer Science, University of Tartu, Tartu, Estonia.
Estonian Biobank Research Team
Reedik MägiEstonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.
Tõnu Esko *Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia. tonu.esko@ut.ee.
Urmo Võsa *Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia. urmo.vosa@ut.ee.
University of Tartu · EESIB Swiss Institute of Bioinformatics · CH

Funding

Eesti Teadusagentuur PRG1291Eesti Teadusagentuur PRG1911Eesti Teadusagentuur PSG415European Regional Development Fund 2014-2020.4.01.15-0012 GENTRANSMEDEuropean Regional Development Fund 2014-2020.4.01.16-0125European Regional Development Fund MOBTP108Horizon 2020 Framework Programme 101016775
6 · The paper itself

Abstract

The proteome holds great potential as an intermediate layer between the genome and phenome. Previous protein quantitative trait locus studies have focused mainly on describing the effects of common genetic variations on the proteome. Here, we assessed the impact of the common and rare genetic variations as well as the copy number variants (CNVs) on 326 plasma proteins measured in up to 500 individuals. We identified 184 cis and 94 trans signals for 157 protein traits, which were further fine-mapped to credible sets for 101 cis and 87 trans signals for 151 proteins. Rare genetic variation contributed to the levels of 7 proteins, with 5 cis and 14 trans associations. CNVs were associated with the levels of 11 proteins (7 cis and 5 trans), examples including a 3q12.1 deletion acting as a hub for multiple trans associations; and a CNV overlapping NAIP, a sensor component of the NAIP-NLRC4 inflammasome which is affecting pro-inflammatory cytokine interleukin 18 levels. In summary, this work presents a comprehensive resource of genetic variation affecting the plasma protein levels and provides the interpretation of identified effects.

Indexed as

Genome-Wide Association StudyProteomeBlood ProteinsDNA Copy Number VariationsEstoniaHumansPolymorphism, Single NucleotideQuantitative Trait LociBlood ProteinsProteome

Identifiers

PMID38565889
PMCPMC10987560
OpenAlexW4393456025

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.